Trinucleotide expansion diseases are devastating and/or disabling conditions with complex and variable symptomatologies in which affectation of the central nervous system plays a substantial role. Huntington’s disease (HD), myotonic dystrophy (DM) and Fragile X-related síndromes are examples of such disorders. Despite diagnosis is standarized in these monogenic disorders, getting prognosis tools to properly evaluate progression of the disease and response to potential treatments can personalize the clinical counseling of patients. The search of molecular biomarkers in body fluids such as peripheral blood and CSF have been pursued in the last years without success in their translation into the clinics due to several factors: cell heterogeneity of the samples, interindividual variability, demographic variations, and in the case of rare disorders, low statistical power due to the small number of cases. This is why we should undertake alternative approaches to retrieve useful biomarkers.
The aims of the project are: (1) to verify the suitability of saliva as a source of transcriptional biomarkers in trinucleotide expansion disorders (HD, DM1/2); (2) to verify the suitability of bulk RNA-seq in cell subpopulations and single cell RNA-seq (scRNA-seq) in biohealth and translational research of infrequent neurological disorders , considering that these approaches will allow the dissection of the cellular content of complex peripheral fluids and will enhance the statistical power; (3) to identify the most clinically relevant cellular subpopulation(s) in saliva and blood for biomarker screen in trinucleotide expansion disorders (HD, DM1/2) with the potential discovery of "disease-specific" cell variants only present in pathology; and (4) to identify the gene expression alterations in salivary and/or blood cells as potential biomarkers in trinucleotide expansion disorders (HD, DM1/2).
Training and research environment
The “Genetics, Epigenetics and Transcription in Brain Pathologies” group is a multidisciplinary team composed by basic researchers and clinicians of diverse disciplines (neurosurgery, anatomical pathology, genetics, internal medicine, clinical pharmacology, immunology) that belongs to the new Instituto de Investigación e Innovación Biomédica de Cádiz (INiBICA). This institute is dedicated to basic, translational and clinical research to improve population health thanks to the collaborative efforts between clinicians from the different hospitals of the area and the University of Cádiz.
The Postdoctoral fellow will be incorporated to the Research Unit of the Hospital Universitario Puerta del Mar to dissect the transcriptomes associated with the most affected cell subpopulations of saliva and blood from patients of HD and DM type 1 and 2.
This project will be supervised by Dr. Luis M. Valor, PI of the “Genetics, Epigenetics and Transcription in Brain Pathologies” group.
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